Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000205718 | SCV000260863 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2023-05-04 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000570946 | SCV000663522 | likely benign | Hereditary cancer-predisposing syndrome | 2016-08-16 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
Gene |
RCV000615595 | SCV000718441 | likely benign | not specified | 2017-04-11 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
All of Us Research Program, |
RCV003997634 | SCV004839934 | likely benign | Lynch syndrome | 2024-02-05 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000615595 | SCV003839887 | likely benign | not specified | 2022-06-20 | no assertion criteria provided | clinical testing |